Early onset or syndromic epilepsy
Gene: LMNB2
PMID 33033404 reports five individuals with heterozygous variants in LMNB2. One of these cases was de novo for c.160A>C p.N54H (NM_032737.4) and the remaining cases had c.1192G>A, p.Glu398Lys (NM_032737.4), which was shown to be de novo in two cases and inherited from the unaffected mother, who was mosaic for the variant. The inheritance in the remaining case was not established and this patient had absence seizures from 5yr, 1-2 per year as part of a wider developmental disorder which also included severe developmental delay.Created: 24 Nov 2020, 11:53 a.m. | Last Modified: 24 Nov 2020, 11:53 a.m.
Panel Version: 2.225
Publications
This gene was part of an initial gene list collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Red.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AR progressive myoconic epilepsy. Reported on OMIM in 2 sisters in 1 consanguineous family. Only 1 reported case. 4 additional variants on HGMD but in association with lipodystrophy.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Epilepsy, progressive myoclonic, 9, 616540 ; {Lipodystrophy, partial, acquired, susceptibility to}, 608709
Publications
Phenotypes for gene: LMNB2 were changed from {Lipodystrophy, partial, acquired, susceptibility to}, 608709; ?Epilepsy, progressive myoclonic, 9, 616540 to ?Epilepsy, progressive myoclonic, 9, OMIM:616540
Publications for gene: LMNB2 were set to 16826530
gene: LMNB2 was added gene: LMNB2 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS Mode of inheritance for gene: LMNB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMNB2 were set to 16826530 Phenotypes for gene: LMNB2 were set to {Lipodystrophy, partial, acquired, susceptibility to}, 608709; ?Epilepsy, progressive myoclonic, 9, 616540